Dystrophic epidermolysis bullosa (DEB) is characterized by blisters that heal with scarring and milia formation, including nail dystrophy, with an incidence of 2.1 per million live births. DEB is derived from defects of the anchoring fibril which results in sublamina densa separation.

We report a one-month old female who presented with vesicles and erosions on bilateral feet at birth. New vesicles and bullae were noted on other areas of the body such as the scalp, ears, anterior trunk, gluteal area, and extremities which spontaneously ruptured leading to erosions and crusts. Nails were thick and yellowish black. Consult was done at a clinic and was given unrecalled antibiotic, antihistamine, and cream for one week. There was no noted improvement hence she was brought to another clinic, diagnosed as staphylococcal scalded skin syndrome, advised admission and subsequently referred to dermatology service. After clinical assessment, findings of cell poor subepidermal blister on histology, linear C3 on DIF, and positive collagen 7 on ELISA, patient was managed as a case of dystrophic epidermolysis bullosa.

Epidermolysis bullosa is an inherited genetic disease with mutation in COL7A1 gene manifesting as vesicles and bullae on trauma prone areas. The diagnosis is based on clinical, histopathology, immunofluorescence, antigen studies, and electron microscopy. Uniquely, immunofluorescence revealed strong linear deposition of C3 at the basement membrane zone which is more suggestive of bullous pemphigoid than epidermolysis bullosa. This case highlights the importance of early diagnosis and proper management of the disease to limit unnecessary intervention.

Human ; Female ; Infant: 1-23 Months ; Epidermolysis Bullosa Dystrophica ; Infant

OBJECTIVES: To determine the risk factors, clinical features, and outcomes of newborns in a tertiary care hospital who developed Acinetobacter baumannii infection.

METHODOLOGY: A retrospective case control study was performed, comparing each case of newborn infected with Acinetobacter baumannii to two uninfected controls.

RESULTS: Ninety charts were reviewed, comprising 30 cases and 60 controls. Risk factors (use of total parenteral nutrition, prior antibiotic use, presence of a central line, mechanical ventilation and intubation, blood transfusion, surgical procedure, intensive care unit admission and presence of a co-morbidity) were noted to be significantly associated with the development of A. baumannii infection (p value <0.001). A. baumannii infection manifests more commonly as fever, respiratory distress, leukocytosis, and thrombocytopenia.

CONCLUSIONS: Acinetobacter baumannii is associated with certain risk factors that increase the likelihood for its perpetuation and acquisition. The increasing number of multi-drug resistant strains of A. baumanni signifies the need to focus on certain issues as infection control and the conscientious use of antibiotics in newborns.

Human ; Male ; Female ; Infant (a Child Between 1 And 23 Months Of Age) ; Acinetobacter Baumannii ; Sepsis ; Infant, Newborn

Sweet syndrome (SS), or acute febrile neutrophilic dermatosis, is a rare inflammatory disorder characterized by fever, painful raised plaques, and dermal neutrophilic infiltration. Pediatric cases account for only 5% of SS globally, and no report exists of SS in infants in the Philippines. This report documents a unique case of SS in a one-month-old male, one of the first documented in the country. The rarity of this condition in infants and its successful management contribute valuable insights into the understanding and treatment of pediatric SS.

A one-month-old male presented with fever, erythematous plaques on the face and extremities, and a rapidly growing nodule on the left lateral neck, along with concurrent fever and cough. Skin biopsy showed dermal neutrophilic infiltration without leukocytoclastic vasculitis, confirming SS. A CT scan revealed a neck abscess and pneumonia. The abscess was treated with incision and drainage, and IV antibiotics. Due to the infection, systemic corticosteroids were contraindicated. Instead, topical hydrocortisone was applied, leading to rapid improvement of the skin lesions. This highlights a successful approach for managing SS when systemic therapy is unsuitable.

This case emphasizes the importance of early diagnosis and individualized treatment in rare pediatric cases of Sweet syndrome. The effective use of topical hydrocortisone in place of systemic steroids demonstrates the potential of alternative therapies, especially when infections preclude standard treatments. This case, one of the first in a neonate in the Philippines, contributes valuable insights to the limited literature on managing this rare condition in infancy.

Human ; Male ; Infant: 1-23 Months ; Corticosteroids ; Adrenal Cortex Hormones ; Infant ; Sweet Syndrome

BACKGROUND: Neonatal sepsis remains to be an important cause of neonatal morbidity and mortality and its diagnosis is difficult due to non-specific signs and symptoms that may mimic other infectious conditions. Blood culture, the gold standard in the diagnosis of sepsis, is limited by it being time-consuming and with high probability of false negative results.

OBJECTIVE: To investigate the usefulness of the NLR as a predictor in the diagnosis of neonatal sepsis and early - onset neonatal sepsis (EOS).

METHODS: Relevant publications from 2009 to 2019 that fulfilled the inclusion criteria were identified through electronic database search. Studies were analyzed and a meta- analysis was performed. The effect of NLR was calculated as a predictive factor for EOS. \

RESULTS: Four observational studies were included with a total of 392 patients. Two studies were analyzed for EOS which included 242 patients. There is significant association between NLR and neonatal sepsis. The sensitivity and specificity of NLR to predict sepsis were 84.5% and 91%. The sensitivity and specificity of NLR to predict EOS were 71% and 66%.

CONCLUSION: NLR is an acceptable tool in predicting neonatal sepsis and EOS but its usefulness is limited due to the presence of bias and heterogeneity in the studies included.

RECOMMENDATIONS: Further studies, preferably local studies, to investigate and validate the usefulness of the NLR as a predictor of neonatal sepsis and EOS is recommended.

Human ; Male ; Female ; Infant (a Child Between 1 And 23 Months Of Age) ; Neonatal Sepsis ; Meta-analysis

Klippel-Trenaunay syndrome (KTS) is a rare slow-flow congenital vascular disorder with an incidence of 1:100,000. 1 , 2 KTS is classically characterized by a clinical triad of capillary malformation, venous malformation, and bony or soft tissue hypertrophy. RAD50 and POLE genes act directly on deoxyribonucleicacid (DNA) and genome stability. Although distinct from the more studiedphosphatidylinositol-4,5-bisphosphate3-kinase catalytic subunit alpha (PIK3CA)gene, RAD50 and POLE genes coexist as a deficient gene in few vascular malformations and papillary thyroid carcinoma (PTC).

This is a case of a 7-month-old Filipino female patient clinically and radiologically diagnosed as KTS presenting with multiple capillary malformations and left limb length-girth discrepancies. Dermoscopy showed various vessel patterns in all affected areas. Soft tissue ultrasound and magnetic resonance imaging/angiography (MRI/MRA) of the left extremities revealed subcutaneous capillary malformations, hypertrophy of the subcutaneous structures and compartment muscles. Strong family history of PTC was elicited and genetic sequencing revealed detected RAD50 and POLE genes. She was treated using the mammalian target of rapamycin inhibitor sirolimus with careful monitoring of trough levels and radiographic tests. A significant outcome one year post-sirolimus revealed no abnormal vessels on ultrasound, a lesser degree of hypertrophy and capillary malformations were no longer appreciated in MRI/MRA of left extremities. Port-wine stains (PWS) and affected limbs showed a decrease in erythema and growth rate during the treatment period.

KTS detected with RAD50 and POLE genes successfully treated with sirolimus with trough-level monitoring. Radiographic evaluation and regular anthropometric assessment remain valuable in the diagnosis and monitoring.

Human ; Female ; Infant: 1-23 Months ; Klippel-trenaunay-weber Syndrome ; Sirolimus

OBJECTIVE: To compare actual tracheostomy tube sizes with estimated endotracheal tube sizes using age-related formula and tracheal diameter from preoperative radiographs among pediatric Filipino patients aged 0-18 years old undergoing tracheostomy.

METHODS:

          DESIGN: Review of records

          SETTING:           Tertiary Private University Hospital in Dasmarinas, Cavite, Philippines

          PATIENTS:         Pediatric patients regardless of gender, aged 0 to 18 years old, with a preoperative radiograph of the trachea, and who subsequently underwent tracheostomy anytime from January 1, 2007 to                December 31, 2016 were considered for inclusion. Radiographs were measured, endotracheal tube sizes were computed using age-related formula, and recorded tracheotomy tube sizes were retrieved.

RESULTS: Twenty-two patients (12 males, 10 females) aged 10 months to 18-years-old (median age: 11 years) were included in the study. Mean tube sizes were 6.46mm (+/- 1.492 SD) for age-related formula, 5.67mm (+/- 1.1849 SD) for radiograph-based estimation, and 5.0 for actual tracheostomy tube inserted in each patient. The Bland-Altman plot showed the bias estimate at 0.7913 and the lower and upper limits of agreement at -1.3598 and 2.9423 (confidence level 95% or 2 standard deviations away from the mean).

CONCLUSION: The average value derived from radiograph-based estimation is less than the corresponding average value from age-related formula. There is a significant difference between age-related formula-based estimation and actual tracheostomy tube inserted. Since the range of differences between the two estimation methods is high, these results imply that the bias or the difference between measures from the two methods is not consistent, with the two methods exhibiting very poor agreement.

 

 

Human ; Male ; Female ; Adolescent (a Person 13-18 Years Of Age) ; Infant (a Child Between 1 And 23 Months Of Age) ; Tracheostomy ; Intubation

Objective: To report a case of isolated ankyloglossia superior in a one-month-old boy.

Methods:

Design: Case Report

Setting: Tertiary Government Training Hospital 

Patient: One

Results: A one-month-old boy with failure to thrive, feeding difficulties and a palatoglossal band that limited mouth opening and anterior posturing of the tongue was diagnosed to have non-syndromic ankyloglossia superior and underwent surgical transection of the fibrous ankylosis under intravenous sedation due to difficulty of insinuating an endotracheal tube orally. Direct latch breastfeeding was successfully adapted from the second to tenth postoperative day before they were lost to follow up.

Conclusion: Despite a complicated pediatric airway, coordinated surgical and anesthesia management successfully restored tongue function and mouth opening to allow effective feeding.

Human ; Male ; Infant (a Child Between 1 And 23 Months Of Age) ; Ankyloglossia Superior ; Tongue-palate Fusion ; Palatoglossal Ankylosis ; Oral Synechiae

BACKGROUND AND OBJECTIVE: Kawasaki Disease (KD) is the leading cause of acquired heart disease in children in developed countries. We aimed to determine the predictors of intravenous immunoglobulin (IVIG) resistance based on clinical manifestations and laboratory parameters.

METHODOLOGY: This was a retrospective cohort study of classic KD patients.    

RESULTS: Two hundred and ten patients were included in the study. The mean age was 2.0 ±1.8 years old with slight female predominance at 51.4%. Seven (3.3%) cases were found to be IVIG resistant. There was no significant difference in age, clinical manifestations or fever duration.  Univariate analysis revealed that IVIG resistant group had a heavier weight with mean of 16.4 kg ± 12.2 compared to the IVIG responder group 12.2kg ± 4.8. The IVIG resistant group had a higher white blood cell count of 23.9 ± 7.8 compared to the responder group of 17.9 ± 6.5.                           

CONCLUSION AND RECOMMENDATIONS: There is an IVIG resistance rate of 3.3% among classic KD patients. A high white blood cell count and weight are probable predictors for IVIG resistant KD. We recommend a larger sample size of resistant cases and a case-control multicenter study.

Human ; Male ; Female ; Child Preschool (a Child Between The Ages Of 2 And 5) ; Infant (a Child Between 1 And 23 Months Of Age) ; Mucocutaneous Lymph Node Syndrome ; Immunoglobulins ; Retrospective Studies ; Child